Hamartin; tuberous sclerosis 1 protein (TSC1, KIAA0243, TSC)
Jump to navigation
Jump to search
Function
- in complex with TSC2 (tuberin), inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 & EIF4EBP1 by negatively regulating mTORC1 signaling
- seems not to be required for TSC2 GAP activity towards RHEB
- implicated as a tumor suppressor
- role in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling
- phosphorylation at Ser-505 does not affect interaction with TSC2
- phosphorylated upon DNA damage, probably by ATM or ATR
- interacts with TSC2, leading to stabilize TSC2
- in the absence of TSC2, TSC1 (hamartin) self-aggregates
- interacts with DOCK7
Structure
- the C-terminal putative coiled-coil domain is necessary for interaction with TSC2
Compartment
- cytoplasm,membrane, peripheral membrane
- at steady state found in association with membranes
Expression
- expressed in skeletal muscle > heart, brain, placenta, pancreas, lung, liver & kidney
- also expressed in embryonic kidney cells
Pathology
- defects in TSC1 are the cause of tuberous sclerosis
- defects in TSC1 may be a cause of focal cortical dysplasia of Taylor balloon cell type
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q92574.html
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/TSC1ID183.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TSC1
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7248
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7248
- OMIM: https://mirror.omim.org/entry/191100
- OMIM: https://mirror.omim.org/entry/605284
- OMIM: https://mirror.omim.org/entry/607341
- UniProt: http://www.uniprot.org/uniprot/Q92574.html